先天性葡萄糖-半乳糖吸收不良：一例伴有新突变的病例报告。
Congenital glucose-galactose malabsorption: A case report with a novel mutation.
作者信息
Al-Lawama Manar, Albaramki Jumana, Altamimi Mutaz, El-Shanti Hatem
机构信息
Department of Pediatrics, School of Medicine The university of Jordan Amman Jordan.
Department of Pediatrics, College of Medicine University of Iowa Iowa City Iowa.
出版信息
Clin Case Rep. 2018 Nov 11;7(1):51-53. doi: 10.1002/ccr3.1913. eCollection 2019 Jan.
Abstract
A three-day-old newborn girl presented with decreased feeding and dehydration. She was sick and in shock. She had renal impairment and hypernatremia. With the resumption of breast feeding, she developed watery stools and hypernatremia. Glucose-Galactose Malabsorption was suspected and confirmed by the presence of a likely pathogenic homozygous variant in .
摘要
一名3日龄女婴出现喂养减少和脱水症状。她病情严重且处于休克状态。她存在肾功能损害和高钠血症。在恢复母乳喂养后，她出现了水样便和高钠血症。怀疑是葡萄糖 - 半乳糖吸收不良，并通过在……中存在可能致病的纯合变异得到证实。
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